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In the last ten years, countless personal genomics companies have popped up. From 23andMe to Family Tree DNA to Ancestry.com, these services mostly focus on health markers and genealogy. Undoubtedly, those are excellent uses for genetic testing but that isn’t the complete story of the human genome. Inside the cells of every human being lies the key to understanding our shared history as a species. As it turns out, we can use our genes to help track every major migration that humanity has ever experienced.

Dr. Spencer Wells and his team at the Genographic Project are taking it upon themselves to test hundreds of thousands of people from all over the globe to help garner a better understanding of human populations and migrations. Traditional and indigenous populations from all over the globe have been DNA tested, and currently anyone interested can buy a personal test for $200.

Dr. Wells was kind enough to sit down for a phone interview this week. I spoke to the world-renown geneticist and the face of the Genographic Project about his work as well as the intricacies of modern DNA testing. We did discuss rather specialized topics, so take a quick look at the genetics overview at National Geographic if you want to catch up on some DNA basics.

Grant Brunner: First off, what are the goals of the Genographic Project on the whole?

Spencer Wells: Well, it’s really a big, overarching goal — which is to explain the patterns of human diversity we see around the world. You know, we’re a species that speaks over 6000 different languages, and all different hair colors, and skin colors, and so-on. And we live in far-flung places. How did we originate as a species, and how did we come to create the current patterns of diversity that we see today? So, it’s really trying to explain patterns of human variation, and how we’ve migrated all over the planet.

GB: Based on the data you’re collecting from the first phase of the Genographic Project and Geno 2.0, what are you hoping to find?

SW: Well, data that’s going to inform those two big questions — on human origins and migration patterns. So, information about the distribution of human genetic variation across the world.

GB: What distinguishes Geno 2.0 from the initial phase of the Genographic Project?

SW: Well, there’s several things. I mean, the first phase of the project was co-funded by IBM — they were our partners. And a large part of what we were doing in the first phase was reaching out to members of indigenous and traditional communities around the world to do large-scale sampling. Tens of thousands of indigenous samples were collected. And we did some initial processing focusing on the Y chromosome and mitochondrial DNA which were certainly the most informative pieces of DNA back at the time we launched the project in 2005.

Over the last eight years, it’s become apparent that, you know, the field of genetics has moved on as we are well aware as geneticists. And there are new tools that can be applied to the study of human variation — including large scale autosomal analyses using arrays, whole mitochondrial genome sequencing, and so on. So, we really wanted to leverage the samples and the information from the first phase using the latest technology to answer even more questions about human genetic patterns.

One of the things that surprised us most about the first phase of the project was the tremendous interest on the part of the public in getting themselves tested through the public participation component. So, when we launched there really essentially was no direct-to-consumer genetic testing industry. You know, there were a couple of companies in the cottage industry fashion. Maybe five or ten thousand people had been tested over the previous couple of years, but you know, it’s very, very small stuff. And we had no sense of how many of those kits we were going to sell, so we didn’t realize what the utility could be until we started selling.

You know, on the first day, we launched, we sold ten thousand kits. We sold a hundred thousand by the end of the year. The total number of public participants now is up to about five-hundred and fifty thousand, and growing. So, it’s launched the entire industry known as direct-to-consumer genetic testing. So, 23andMe came a couple of years later. Navigenics, deCODEme are kind of on our coat tails. The thing is, numbers like that give you a lot of power scientifically — simply having access to large numbers.

But the other thing that we started to notice was that people were really engaged in this, and they taught themselves a lot about population genetics. And they were starting to spot patterns that we, as scientists, weren’t necessarily looking for because we weren’t attuned to them. You’re never more interested in genetic data than when it’s your own, and so a lot of people have done a lot of digging, and they’ve become what we call citizen scientists. And we wanted to take advantage of that — the power of kind of crowdsourcing the analyses to a certain extent. Of course, everything has to be verified by our scientific team, but taking advantage of people’s interest in their own genetic results to learn more about the overall picture.

Grant, yes, i understood, I downloaded all your markers, and used all of them. DYS19b and DYS464e and DYS464f are in most cases null, so i counted them as 48 markers. I had to correct a few (see http://www.smgf.org/ychromosome/marker_standards.jspx). Most people of y-search use ftdna-markers. If you follow that line, you should correct a few values. With 37-67, i mean the ftdna-set. Of that 30 extra markers, you have measured only two: DYS444 and DYS446. Most-likely you belong to the small subgroup. If that is the case you will likely have DYS594=8 and DYS617=12, which is only present in this small group of F2642. Ancestral F2642 has DYS592=10 and DYS617=13. We now have 6 persons proven in this group and a few suggested. The six proven have measured 67 markers; we are sure for this group.

http://grantbrunner.com Bassguy

I’ll look into joining the groups, and I’ll likely refine to 67 markers sometime next month.

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